A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14725828



Internal ID3771692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49900360..49903312hg38UCSC Ensembl
Innerchr13:49900360..49903312hg38UCSC Ensembl
Outerchr13:49900210..49903602hg38UCSC Ensembl
chr13:50474496..50477448hg19UCSC Ensembl
Innerchr13:50474496..50477448hg19UCSC Ensembl
Outerchr13:50474346..50477738hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382953
hg192953
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632058
Supporting Variants
SamplesHG03410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14725828
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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